ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3488_3494dup (p.Val1166fs)

dbSNP: rs2036977719
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001381411 SCV001579794 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-08-04 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1069520). This variant has not been reported in the literature in individuals affected with CEP290-related conditions. This sequence change creates a premature translational stop signal (p.Val1166Lysfs*4) in the CEP290 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115).
Fulgent Genetics, Fulgent Genetics RCV002499790 SCV002809236 likely pathogenic Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2021-10-20 criteria provided, single submitter clinical testing

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